The JI
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     
 

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Markert, M. L.
Right arrow Articles by Hutton, J. J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Markert, M. L.
Right arrow Articles by Hutton, J. J.

The Journal of Immunology, Vol 138, Issue 10 3203-3206, Copyright © 1987 by American Association of Immunologists

ARTICLES

Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency

ML Markert, MS Hershfield, DA Wiginton, JC States, FE Ward, SH Bigner, RH Buckley, RE Kaufman and JJ Hutton

A patient with adenosine deaminase-deficient severe combined immunodeficiency is described whose defect is secondary to deletion of a portion of the ADA structural gene. In Southern analyses, DNA from this patient does not hybridize to a genomic probe that includes the 3' end of exon 1. This implies that both his parents are heterozygous for deletions of exon 1 sequences. Consistent with this finding, the patient has no detectable adenosine deaminase mRNA by Northern analysis. This is the first report of a deletion mutation as the cause of adenosine deaminase deficiency.


This article has been cited by other articles:


Home page
 BloodHome page
F. X. Arredondo-Vega, I. Santisteban, E. Richard, P. Bali, M. Koleilat, M. Loubser, A. Al-Ghonaium, M. Al-Helali, and M. S. Hershfield
Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy
Blood, February 1, 2002; 99(3): 1005 - 1013.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Website Copyright © 1987 by The American Association of Immunologists, Inc. All rights reserved.
All Contents Copyright © 1987 by The American Association of Immunologists, Inc. All rights reserved.